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19 Possible Causes for Abnormal Corticomedullary Differentiation, Retinal Degeneration, Varicella

  • Ataxia Telangiectasia

    Uncomplicated varicella infection occurred in 44% of patients; 2 patients had more than one clinical episode.[ncbi.nlm.nih.gov] Björklund, Markus Ringnér, Thomas Perlmann & Johan Holmberg Nature Communications (2018) DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice[doi.org] Cellular immunity can also be affected in A-T: abnormal development of the thymus, with absence of Hassall's corpuscles and corticomedullary differentiation, impaired delayed[err.ersjournals.com]

  • Primary Optic Atrophy

    Varicella Zoster Virus (chicken pox) Noninfectious Optic Neuritis -Sarcoidosis -Autoimmune diseases 1. Idiopathic 2. Infectious - self-limiting 3.[studyblue.com] Degeneration of retinal ganglion cells and their axons; bilateral subacute optic neuropathy, typically with simultaneous or rapidly sequential central or cecocentral visual[unboundmedicine.com] Radiographs reveal diffuse bone sclerosis, loss of the normal corticomedullary differentiation, dense homogeneous appearance due to abnormally increased bone density with[djo.org.in]

  • Waters-West Syndrome

    109 Congenital Immunodeficiencies 848 110 Inflammatory Mediators in Neonatal Asphyxia and Infection 853 111 Neonatal Malignancies 858 Cytomegalovirus Herpes Simplex and Varicella[books.google.com] Familial, with External and Middle Ear Abnormalities OMIM:607330 Lathosterolosis OMIM:150500 Lattice Degeneration of Retina Leading to Retinal Detachment OMIM:245800 Laurence-Moon[informatics.jax.org] […] atrophy Adrenal insufficiency Absence of renal corticomedullary differentiation Hemolytic anemia Ptosis Lethargy Pachygyria Heterotopia Decreased liver function Aspiration[mendelian.co]

  • CAMFAK Syndrome

    Intrauterine infection/maternal infection embryopathy Rubella, cytomegalovirus, varicella-herpes zoster, herpes simplex, toxoplasmosis, syphilis, Epstein–Barr virus, measles[iovs.arvojournals.org] Cockayne described a syndrome characterized by cachectic dwarfism, deafness, and pigmentary retinal degeneration with a characteristic “salt and pepper” appearance of the[dermaamin.com] […] renal corticomedullary differentiation High palate Camptodactyly Dolichocephaly Arachnodactyly High, narrow palate Renal hypoplasia Joint contracture of the hand Trophic[mendelian.co]

  • Hyperalaninemia

    ., c erebellar abscess, Coxsackie virus, Diptheria, Mumps, Polio, Typhus, Echovirus, Pertusis, Rubeola, Varicella, Infectious Mononucleosis, Mycoplasma, Infectious polyneuropathy[cmdg.org] degeneration-trichomegaly syndrome; septo-optic dysplasia; (iv) craniofacial disorders: acrocephaly-cleft lip-radial aplasia syndrome; acrocephalosyndactyly;type 1 (Apert[nmhealth.org] […] renal corticomedullary differentiation Cryptorchidism Coma Obesity X-linked recessive inheritance Hypogonadism Neonatal hypotonia Deeply set eye Respiratory distress Peripheral[mendelian.co]

  • Hematopoietic Stem Cell Transplantation

    Treatment of macular degeneration using embryonic stem cell-derived retinal pigment epithelium: preliminary results in Asian patients.[doi.org] […] analyzed, a blood sample was collected and tested by ELISA for diphtheria, Haemophilus influenzae type b (Hib), hepatitis A, hepatitis B, tetanus, measles, rubella, and varicella[ncbi.nlm.nih.gov] Normal corticomedullary differentiation was evident in five (P   0.06) and 12 (P   0.005) patients at 6 and 12 months, respectively.[ncbi.nlm.nih.gov]

  • Mulibrey Nanism Syndrome

    Sensorineural hearing loss and pigmentary retinal degeneration is invariably present.[emedicine.medscape.com] Complications included pre-eclampsia (three cases), anti-Rhesus immunisation (a pair of siblings), gestational diabetes (one), and varicella zoster infection (one).[jmg.bmj.com] […] disease in the right kidney, such as poor corticomedullary differentiation and cortical atrophy that were confirmed by renal scintigraphy (Fig. 3 ).[academic.oup.com]

  • Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome

    […] virus antenatal infection Varicella Zoster Variegate porphyria Vas deferens, congenital bilateral aplasia of Vascular disruption sequence Vascular helix of umbilical cord[bioreference.net] Inherited deficiencies of blood lipoproteins also may result in peripheral neuropathy, retinal degeneration, and other motor and skeletal deformities.[britannica.com] corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram[mendelian.co]

  • Hypertrichotic Osteochondrodysplasia

    […] pulmonary lymphangiectasia 100 cases 99015 Triple A syndrome 100 cases833 Encephalopathy due to sulfite oxidase deficiency 100 cases 869 Silent sinus syndrome 100 cases291 Fetal varicella[fliphtml5.com] […] early-onset osteoarthritis (OD) [MIM: 165800 ] ACAT1 P24752 non-pleiotropic 3-ketothiolase deficiency (3KTD) [MIM: 203750 ] ACO2 Q99798 non-pleiotropic Infantile cerebellar-retinal[sbg.bio.ic.ac.uk] […] of cardiovascular system morphology Abnormality of the dentition Short nose Blindness Dysplastic tricuspid valve Abnormality of the umbilicus Reduced renal corticomedullary[mendelian.co]

  • Raine Syndrome

    PART II - WHAT WAS DONE While in hospital, the child suffered a varicella infection ruling out treatment with all of the drugs listed above, including the chemotherapy drugs[scielo.br] […] pigmentosa-deafness syndrome Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features Exstrophy of the bladder Familial[checkrare.com] Corticomedullary differentiation was maintained and no periosteal reaction was noted.[bmcmedgenet.biomedcentral.com]

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